Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Pdhx'

246106

Institutional Source

Beutler Lab

Gene Symbol

Pdhx

Ensembl Gene

ENSMUSG00000010914

Gene Name

pyruvate dehydrogenase complex, component X

Synonyms

Pdx1

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102851420-102903858 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 102854562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 399 (K399*)

Ref Sequence

ENSEMBL: ENSMUSP00000011058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011058]

AlphaFold

Q8BKZ9

Predicted Effect

probably null
Transcript: ENSMUST00000011058
AA Change: K399*

SMART Domains

Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914
AA Change: K399*

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
Pfam:Biotin_lipoyl	57	131	1.3e-21	PFAM
low complexity region	148	172	N/A	INTRINSIC
Pfam:E3_binding	182	217	5e-9	PFAM
low complexity region	233	249	N/A	INTRINSIC
Pfam:2-oxoacid_dh	272	501	8.4e-74	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably damaging	Het

Other mutations in Pdhx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02147:Pdhx	APN	2	102,860,686 (GRCm39)	unclassified	probably benign
IGL02450:Pdhx	APN	2	102,872,594 (GRCm39)	missense	probably benign	0.00
R0152:Pdhx	UTSW	2	102,858,625 (GRCm39)	missense	probably benign	0.04
R0317:Pdhx	UTSW	2	102,858,625 (GRCm39)	missense	probably benign	0.04
R3937:Pdhx	UTSW	2	102,852,564 (GRCm39)	missense	probably damaging	1.00
R3950:Pdhx	UTSW	2	102,865,586 (GRCm39)	missense	probably damaging	0.99
R4546:Pdhx	UTSW	2	102,903,742 (GRCm39)	missense	probably null	0.99
R4677:Pdhx	UTSW	2	102,903,811 (GRCm39)	splice site	probably null
R4744:Pdhx	UTSW	2	102,872,641 (GRCm39)	missense	probably benign	0.01
R4996:Pdhx	UTSW	2	102,860,657 (GRCm39)	missense	probably damaging	1.00
R5000:Pdhx	UTSW	2	102,871,385 (GRCm39)	splice site	probably null
R5076:Pdhx	UTSW	2	102,871,422 (GRCm39)	missense	probably damaging	0.99
R5682:Pdhx	UTSW	2	102,865,685 (GRCm39)	missense	probably benign	0.00
R6246:Pdhx	UTSW	2	102,877,137 (GRCm39)	missense	probably damaging	1.00
R6850:Pdhx	UTSW	2	102,871,445 (GRCm39)	missense	probably damaging	1.00
R7141:Pdhx	UTSW	2	102,903,659 (GRCm39)	missense	probably benign	0.21
R7219:Pdhx	UTSW	2	102,858,760 (GRCm39)	missense	probably benign	0.01
R7460:Pdhx	UTSW	2	102,877,124 (GRCm39)	missense	probably damaging	1.00
R7552:Pdhx	UTSW	2	102,877,099 (GRCm39)	missense	probably benign	0.01
R8325:Pdhx	UTSW	2	102,872,597 (GRCm39)	missense	probably benign	0.08
R9163:Pdhx	UTSW	2	102,852,561 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTAGCTGTGCTAGGAAGG -3'
(R):5'- TTAGATCGTCTGTTCTCGAGC -3'

Sequencing Primer
(F):5'- CTGTGCTAGGAAGGCCTAACTAC -3'
(R):5'- AGCTTCCTGTAATTAGTTGGATGACC -3'

Posted On

2014-10-30